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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
14
g.75959200C>T
CA145481
IFT43,TGFB3
c.1226G>A (p.Cys409Tyr)
n.1607G>A
n.90-29685C>T
ClinVar
dbSNP
14
g.75959200C=
CA2147716818
IFT43,TGFB3
c.1226G= (p.Cys409=)
n.1607G=
n.90-29685C=
dbSNP
Number of alleles fetched
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